Variant information


Systematic Name c.1030C>G
Protein name p.Arg344Gly
Mutation type missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA blood
Detection direct
Extent all 4 exons
Evidence of Pathogenicity 100 chromosomes tested and not found in 100 chromosomes
Carrier status checked Yes
Carrier result de novo
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients:Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh F.:Journal of Child Neurology: 21940684

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.1030C>G p.Arg344Gly missense C-term Unknown Female Rett syndrome-classical 4803 Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients:Fendri-Kriaa, N., Rouissi, A., Ghorbel, R., Mkaouar-Rebai, E., Belguith, N., Gouider-Khouja, N., Fakhfakh F.:Journal of Child Neurology: 21940684